A systematic approach to the reporting of medically relevant findings from whole genome sequencing.
A systematic approach to the reporting of medically relevant findings from whole genome sequencing.
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DOI：
10.1186/s12881-014-0134-1
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发表时间：
2014-12-14
影响因子：
--
通讯作者：
MedSeq Project
中科院分区：
文献类型：
--
作者：
McLaughlin HM;Ceyhan-Birsoy O;Christensen KD;Kohane IS;Krier J;Lane WJ;Lautenbach D;Lebo MS;Machini K;MacRae CA;Azzariti DR;Murray MF;Seidman CE;Vassy JL;Green RC;Rehm HL;MedSeq Project
MedSeq项目是一项随机临床试验，旨在开发评估将基因组测序整合到临床医学中的影响的方法。为了方便参与MedSeq项目的医生和患者获得潜在医学相关性的结果，我们试图开发一种有效沟通此类发现的报告方法。基因组测序在Illumina HiSeq平台上进行。根据分子医学实验室开发的方法并符合当前的专业指南，对变异进行筛选、解释和验证。GeneInsight软件套件与Partners HealthCare电子健康记录集成，用于变体管理、报告起草和交付。我们编写了一份简洁的5-6页基因组报告（GR），其中单页总结了潜在医学相关性的结果，另外几页包含结构化变异、基因和疾病信息，以及报告变异的支持证据，以及相关疾病和临床意义的简要描述。GR的格式是提供基因组发现的简明摘要，使医生能够对患者的疾病诊断、预防和管理采取适当的步骤。我们的经验强调了报告潜在医学相关性结果的重要考虑因素，并为临床基因组测序的解释和报告实践提供了框架。本文的在线版本（doi:10.1186/s12881-014-0134-1）包含补充材料，可供授权用户使用。
The MedSeq Project is a randomized clinical trial developing approaches to assess the impact of integrating genome sequencing into clinical medicine. To facilitate the return of results of potential medical relevance to physicians and patients participating in the MedSeq Project, we sought to develop a reporting approach for the effective communication of such findings. Genome sequencing was performed on the Illumina HiSeq platform. Variants were filtered, interpreted, and validated according to methods developed by the Laboratory for Molecular Medicine and consistent with current professional guidelines. The GeneInsight software suite, which is integrated with the Partners HealthCare electronic health record, was used for variant curation, report drafting, and delivery. We developed a concise 5–6 page Genome Report (GR) featuring a single-page summary of results of potential medical relevance with additional pages containing structured variant, gene, and disease information along with supporting evidence for reported variants and brief descriptions of associated diseases and clinical implications. The GR is formatted to provide a succinct summary of genomic findings, enabling physicians to take appropriate steps for disease diagnosis, prevention, and management in their patients. Our experience highlights important considerations for the reporting of results of potential medical relevance and provides a framework for interpretation and reporting practices in clinical genome sequencing. The online version of this article (doi:10.1186/s12881-014-0134-1) contains supplementary material, which is available to authorized users.
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DOI：
10.1038/gim.2013.73
发表时间：
2013-07
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
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作者：
通讯作者：
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影响因子：
30.8
作者：
通讯作者：
--
影响因子：
8.2
作者：
Franks, P. W.;Rolandsson, O.;Debenham, S. L.;Fawcett, K. A.;Payne, F.;Dina, C.;Froguel, P.;Mohlke, K. L.;Willer, C.;Olsson, T.;Wareham, N. J.;Hallmans, G.;Barroso, I.;Sandhu, M. S.
通讯作者：
Sandhu, M. S.
影响因子：
3.9
作者：
Aronson, Samuel J.;Clark, Eugene H.;Babb, Lawrence J.;Baxter, Samantha;Farwell, Lisa M.;Funke, Birgit H.;Hernandez, Amy Lovelette;Joshi, Victoria A.;Lyon, Elaine;Parthum, Andrew R.;Russell, Franklin J.;Varugheese, Matthew;Venman, Thomas C.;Rehm, Heidi L.
通讯作者：
Rehm, Heidi L.
DOI：
10.1093/bioinformatics/btp698
发表时间：
2010-03-01
期刊：
Bioinformatics (Oxford, England)
影响因子：
--
作者：
Li H;Durbin R
通讯作者：
Durbin R